Canonical Allele Identifier: CA934419413

Gene: TH

Linked Data

• gnomAD v3: 11-2167027-TCCTTC-T
• gnomAD v4: 11-2167027-TCCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167029_2167033del , CM000673.2:g.2167029_2167033del	GRCh38
NC_000011.9:g.2188259_2188263del , CM000673.1:g.2188259_2188263del	GRCh37
NC_000011.8:g.2144835_2144839del	NCBI36
NG_008128.1:g.9774_9778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696_700del
ENST00000324155.8:c.*385_*389del
ENST00000333684.9:c.695+403_695+407del	ENSP00000328814.6:n.695+403_695+407del
ENST00000352909.7:c.696_700del
ENST00000381168.7:c.*416_*420del
ENST00000381175.5:c.777_781del
ENST00000381178.5:c.789_793del
ENST00000412076.1:c.135+403_135+407del
ENST00000416223.5:c.136-264_136-260del
ENST00000469226.1:n.825_829del
ENST00000479437.5:n.245_249del
NM_000360.3:c.696_700del
NM_199292.2:c.789_793del
NM_199293.2:c.777_781del
XM_011520335.1:c.708_712del
XM_011520335.2:c.708_712del
NM_000360.4:c.696_700del
NM_199292.3:c.789_793del
NM_199293.3:c.777_781del